Genomics and genealogy provide an Icelandic springboard into the human gene pool

Abstract

Background: The biotechnology boom of the late nineties gave birth to many genomics companies. deCODE genetics in Reykjavik, Iceland, is among the surviving few following the subsequent dip of confidence among investors in this field. Recently deCODE's cooperation with the Icelandic people, clinicians and genealogists has led to major discoveries in CNS genetics, notably in schizophrenia and stroke.

Aims: To describe how the neuregulin 1 gene was identified as a candidate gene for schizophrenia in Iceland through use of genealogy, extended families, state-of-the art technology and model-free statistics.

Method: The literature on deCODE's approach, the roots of Icelanders, and the association between neuregulin 1 and schizophrenia is examined.

Results: Whereas sceptics had claimed that genetic variation in small isolated populations was unlikely to be replicated and relevant to risk in larger populations, replications have been reported in populations ranging from the British Isles, the Netherlands and different regions of China.

Conclusion: The generalizability of candidate genes associated with complex disorders in small and relatively homogeneous populations is perhaps greater than sceptics expected. deCODE's approach is proving to be efficient in the quest for novel and much needed insights into the biology of complex disorders like schizophrenia.

Declaration of Interest: None.

• Genomics
• mental health
• neuregulin 1
• haplotypes
• schizophrenia